Gene Symbol | WDR62 |
Entrez Gene ID | 284403 |
Full Name | WD repeat domain 62 |
Synonyms | C19orf14,MCPH2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]. |
Disorder MIM: | |
Disorder Html: | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3) |